Suprapubic micturition cystourethrography in infancy and childhood

1975 ◽  
Vol 3 (1) ◽  
pp. 20-23 ◽  
Author(s):  
B. Omogbehin ◽  
E. Willich
Keyword(s):  
Infancy And Childhood ◽  
Micturition Cystourethrography

Kindler's Syndrome with Recurrent Neutropenia: Report of Two Cases from Saudi Arabia

2020 ◽  
Author(s):  
Yousef Binamer ◽  
Muzamil A. Chisti
Keyword(s):  
Autosomal Recessive ◽  
Common Mechanism ◽  
Sequencing Analysis ◽  
Loss Of Function ◽  
Skin Atrophy ◽  
Whole Exome ◽  
Infancy And Childhood ◽  
Genetics And Genomics ◽  
New Feature ◽  
Generation Sequencing

AbstractKindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.

scholarly journals Genetic scores for adult subcortical volumes associate with subcortical volumes during infancy and childhood

2021 ◽  
Author(s):  
Sander Lamballais ◽  
Philip R. Jansen ◽  
Jeremy A. Labrecque ◽  
M. Arfan Ikram ◽  
Tonya White
Keyword(s):  
Infancy And Childhood ◽  
Subcortical Volumes

Parent‐Offspring and Sibling Adoption Analyses of Parental Ratings of Temperament in Infancy and Childhood

1991 ◽  
Vol 59 (4) ◽  
pp. 705-732 ◽  
Author(s):  
Robert Plomin ◽  
Hilary Coon ◽  
Gregory Carey ◽  
J. C. DeFries ◽  
David W. Fulker
Keyword(s):  
Infancy And Childhood ◽  
Parental Ratings

scholarly journals GALL-STONES IN INFANCY AND CHILDHOOD

1917 ◽  
Vol 66 (5) ◽  
pp. 557-559 ◽  
Author(s):  
DANIEL N. EISENDRATH
Keyword(s):  
Gall Stones ◽  
Infancy And Childhood

scholarly journals Clinical Course of Patients with Nonclassical 21-hydroxylase Deficiency (21-OHD) Diagnosed in Infancy and Childhood

2008 ◽  
Vol 55 (2) ◽  
pp. 397-404 ◽  
Author(s):  
Ken-ichi KASHIMADA ◽  
Makoto ONO ◽  
Toshikazu ONISHI ◽  
Satimi KOYAMA ◽  
Takio TOYOURA ◽  
...  
Keyword(s):  
Clinical Course ◽  
Hydroxylase Deficiency ◽  
Infancy And Childhood ◽  
21 Hydroxylase Deficiency
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